• A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease
• Budd-Chiari syndrome, obstetric complications, and antiphospholipid antibodies
• Clinical spectrum of AIFM1-associated disease in an Irish family, from mild neuropathy to severe cerebellar ataxia with colour blindness
• Cowchock syndrome is associated with a mutation in apoptosis-inducing factor
• Deep Brain Stimulation for the Management of AIFM1-Related Disabling Tremor: A Case Series
• Do low-risk pregnant women with antiphospholipid antibodies need to be treated? Organizing Group of the Antiphospholipid Antibody Treatment Trial
• Management of immune thrombocytopenic purpura associated with the antiphospholipid antibody syndrome
• Placental pathology and antiphospholipid antibodies: a descriptive study
• Prevention of fetal death in the antiphospholipid antibody syndrome
• Repeated fetal losses associated with antiphospholipid antibodies: a collaborative randomized trial comparing prednisone with low-dose heparin treatment
• Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease
• Submicroscopic deletions at 16p13.3 in Rubinstein-Taybi syndrome: frequency and clinical manifestations in a North American population
• Treatment of antiphospholipid syndrome in pregnancy
• Whole genome sequencing identifies etiology of recurrent male intrauterine fetal death
• Whole-exome sequencing detected a novel AIFM1 variant in a Han-Chinese family with Cowchock syndrome